2019
Wilson's Disease
Kelly C, Ala A, Schilsky M. Wilson's Disease. 2019, 554-573. DOI: 10.1002/9781119211419.ch37.Peer-Reviewed Original ResearchUrinary copper excretionWilson's diseaseCopper excretionFull neurological evaluationUrine copper excretionDiagnosis of WDMultiple medical specialtiesSingle diagnostic testMagnetic resonance imagingRange of presentationsAsymptomatic patientsNeurological evaluationUncommon conditionAsymptomatic siblingsChelation treatmentMolecular testingWD patientsResonance imagingDiagnostic testsPatientsDiseaseExcretionMedical specialtiesDiagnosisSymptom development
2015
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatric Gastroenterology Hepatology & Nutrition 2015, 18: 202-208. PMID: 26473142, PMCID: PMC4600706, DOI: 10.5223/pghn.2015.18.3.202.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasis type 3Wilson's diseaseElevated hepatic copperUrine copper excretionCurrent diagnostic criteriaAutosomal recessive disorderHepatic copper contentOlder patientsHepatocellular originUrsodeoxycholic acidDiagnostic criteriaMolecular genetic diagnosisCopper excretionABCB4 geneCholestasisDiagnosisBiochemical testingHepatic copperRecessive disorderType 3Novel mutationsGenetic diagnosisDiseaseMolecular diagnosticsTreatment
2011
Wilson Disease
Schilsky M, Tavill A. Wilson Disease. 2011, 803-824. DOI: 10.1002/9781119950509.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalSevere hepatic insufficiencyAcute liver failureUrine copper excretionKayser-Fleischer ringsHepatic copper concentrationAsymptomatic patientsLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyPatient survivalDisease progressionBiliary excretionBiochemical findingsToxic copper accumulationCopper excretionPatientsDiseaseCopper-transporting adenosine triphosphataseDisease-specific mutationsGenetic disorders
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